| Metadata | |
|---|---|
| ID | DOID:0111594 |
| Name | distal arthrogryposis type 5D |
| Definition | A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. https://www.ncbi.nlm.nih.gov/pubmed/23261301 |
| Xrefs |
SNOMEDCT_US_2021_09_01:773396009 |
| Subsets |
DO_rare_slim |
| Synonyms |
DA5D [EXACT] distal arthrogryposis type 5 without ophthalmoparesis [EXACT] distal arthrogryposis type 5 without ophthalmoplegia [EXACT] |
| Parent Relationships |